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Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies
Genome‐scale high‐throughput sequencing enables the detection of unprecedented numbers of sequence variants. Variant filtering and interpretation are facilitated by mutation databases, in silico tools, and population‐based reference datasets such as ExAC/gnomAD, while variants are classified using t...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Blackwell Publishing Ltd
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7004123/ https://www.ncbi.nlm.nih.gov/pubmed/31506931 http://dx.doi.org/10.1111/cge.13640 |